Canonical Allele Identifier: CA517373997

Gene: ATRX

Linked Data

• dbSNP Id: rs1557034669
• gnomAD v2: X-76763874-T-G
• MyVariant Identifiers: chrX:g.76763874T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508396T>G , CM000685.2:g.77508396T>G	GRCh38
NC_000023.10:g.76763874T>G , CM000685.1:g.76763874T>G	GRCh37
NC_000023.9:g.76650530T>G	NCBI36
NG_008838.2:g.282826A>C
NG_008838.3:g.282874A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7434A>C MANE Select	ENSP00000362441.4:p.Pro2478=
ENST00000675732.1:c.2532A>C	ENSP00000502598.1:p.Pro844=
ENST00000373344.9:c.7434A>C	ENSP00000362441.4:p.Pro2478=
ENST00000395603.7:c.7320A>C	ENSP00000378967.3:p.Pro2440=
ENST00000480283.5:c.*7062A>C	ENSP00000480196.1:n.*7062A>C
ENST00000623706.3:n.5754A>C
NM_000489.4:c.7434A>C	NP_000480.3:p.Pro2478=
NM_138270.3:c.7320A>C	NP_612114.2:p.Pro2440=
XM_005262153.3:c.7431A>C	XP_005262210.2:p.Pro2477=
XM_005262154.3:c.7347A>C	XP_005262211.2:p.Pro2449=
XM_005262155.3:c.7317A>C	XP_005262212.2:p.Pro2439=
XM_005262156.3:c.7269A>C	XP_005262213.2:p.Pro2423=
XM_005262157.3:c.7230A>C	XP_005262214.2:p.Pro2410=
XM_006724666.2:c.7317A>C	XP_006724729.1:p.Pro2439=
XM_006724667.2:c.7155A>C	XP_006724730.1:p.Pro2385=
XR_938400.1:n.9026A>C
NM_000489.5:c.7434A>C	NP_000480.3:p.Pro2478=
XM_005262153.5:c.7431A>C	XP_005262210.2:p.Pro2477=
XM_005262154.5:c.7347A>C	XP_005262211.2:p.Pro2449=
XM_005262155.4:c.7317A>C	XP_005262212.2:p.Pro2439=
XM_005262156.4:c.7269A>C	XP_005262213.2:p.Pro2423=
XM_005262157.5:c.7230A>C	XP_005262214.2:p.Pro2410=
XM_006724666.4:c.7317A>C	XP_006724729.1:p.Pro2439=
XM_006724667.3:c.7155A>C	XP_006724730.1:p.Pro2385=
XM_017029601.2:c.7344A>C	XP_016885090.1:p.Pro2448=
XM_017029602.1:c.7314A>C	XP_016885091.1:p.Pro2438=
XM_017029603.1:c.7266A>C	XP_016885092.1:p.Pro2422=
XM_017029604.2:c.7233A>C	XP_016885093.1:p.Pro2411=
XM_017029605.1:c.7230A>C	XP_016885094.1:p.Pro2410=
XM_017029606.2:c.7203A>C	XP_016885095.1:p.Pro2401=
XM_017029607.2:c.7200A>C	XP_016885096.1:p.Pro2400=
XM_017029608.2:c.7152A>C	XP_016885097.1:p.Pro2384=
XM_017029609.1:c.7116A>C	XP_016885098.1:p.Pro2372=
XM_017029610.1:c.7113A>C	XP_016885099.1:p.Pro2371=
XM_017029611.1:c.7068A>C	XP_016885100.1:p.Pro2356=
XR_001755700.2:n.7733A>C
NM_138270.4:c.7320A>C	NP_612114.2:p.Pro2440=
NM_000489.6:c.7434A>C MANE Select	NP_000480.3:p.Pro2478=
NM_138270.5:c.7320A>C	NP_612114.2:p.Pro2440=